Emotional and Behavioral Responses to Genetic Testing for Susceptibility to Cancer

Emotional and Behavioral Responses to Genetic Testing for Susceptibility to Cancer

ABSTRACT: As genetic testing for susceptibility to cancer becomes more widely available, cancer-care providers will become more involved in counseling patients about cancer risks and the meaning of genetic test results. As a result, oncologists and oncology nurses need to be aware of the unique psychological issues and challenges posed by genetic testing for cancer susceptibility. This paper first describes a psychological profile of individuals who are likely to opt for such testing, based on extrapolation from studies of people at high risk of cancer. It also discusses the possible adverse emotional responses individuals may have to learning test results, and offers suggestions for preventing or lessening these psychological consequences. In addition, the article explores a wide range of issues relating to the genetic counseling process and the impact of genetic information on family relationships. [ONCOLOGY 10(2):191-202, 1996]

Introduction

As genetic testing for cancer is integrated into the routine clinical
management of cancer patients and their high-risk relatives, oncologists
and nurses will undoubtedly be called upon to provide genetic
information. Evidence for this comes from recent studies documenting
a very high level of interest in genetic testing among cancer
patients, their relatives, and members of the general population
[1-4]. Preliminary data suggest that among high-risk family members,
these self-reported intentions usually translate into actual utilization
of genetic testing [5]. To meet this demand for genetic information,
cancer-care providers will be challenged to expand their current
repertoire of skills and services.

An important concern surrounding the clinical application of genetic
technology is the psychological impact of communicating test results
[6,7]. How should providers counsel their patients about cancer
risks and the meaning of genetic test results? Although similar
concerns have been noted in the context of predictive genetic
testing for other late-onset diseases, such as Huntington's disease,
testing for cancer susceptibility raises unprecedented psychological
issues.

One example is the issue of uncertainty. The need to reduce uncertainty
has been commonly cited by prospective participants in genetic
testing programs as a reason for being tested [8,9]. In the cancer
domain, however, both carriers and noncarriers of mutations
face significant ambiguity and uncertainty about whether and when
cancer will develop.

A second issue concerns the appropriateness of the traditional
nondirective stance of genetic counseling [10]. Cancer, unlike
Huntington's disease, is potentially preventable and can be treated
effectively if detected early. Therefore, a comprehensive cancer-risk
counseling program must not only educate patients to facilitate
informed decisions but also promote long-term changes in risk-related
health behaviors and surveillance patterns. In our view, this
goal cannot and will not be achieved without addressing the beliefs,
emotions, and relationships that influence these behaviors.

The purpose of this paper is to address some of the emerging psychological
issues and challenges posed by genetic testing for cancer risk.
First, we present a description of the psychological characteristics
of individuals who are likely to come forward for such testing.
Next, we describe the range of possible adverse emotional reactions,
with particular attention to the possible impact of distress on
prevention and surveillance behaviors. In addition, we address
issues surrounding the genetic counseling process and family coping
and adaptation. Finally, suggestions for managing the psychological
sequelae of genetic testing are offered.

With the cloning of the BRCA1 gene for hereditary breast-ovarian
cancer (HBOC) [11] and the hMLH1 and hMSH2 genes for hereditary
nonpolyposis colorectal cancer (HNPCC) [12-14], the availability
of direct mutation testing is imminent. The funding of grants
to establish pilot predictive testing programs for cancer has
made genetic testing available on an experimental basis [15].
Although recent consensus statements do not advocate population
screening [16], relatives of cancer patients and persons at increased
risk have been targeted for recruitment into pilot predictive
testing programs.

Previous studies of individuals at increased risk for cancer can
inform us about the psychological profile of this target population.
Heightened anxiety is cited most widely as a feature of women
at increased risk for breast cancer. One study of women who, on
their own initiative, participated in a breast cancer surveillance
program found that over one-fourth of them exhibited psychological
distress severe enough to warrant clinical intervention [17].
A recent study of first-degree female relatives of breast cancer
patients [18] documented a wide range of self-reported traumatic
stress symptoms, ranging from intrusive thoughts (53%) to sleep
disturbances (22%). Stress-related impairment in the ability to
perform routine daily activities was reported by 30% of women.

Women with a family history of ovarian cancer may be especially
vulnerable to psychological distress. The protracted morbidity
and high mortality associated with this disease generates anguish
and apprehension in unaffected female relatives of patients [19].
High-risk women who have information-seeking coping styles may
be especially prone to adverse emotional reactions [2,20]. Their
efforts to attenuate distress by consuming relevant information
only seem to heighten their sense of vulnerability and anxiety
[19].

The subset of high-risk individuals who opt for genetic testing
for cancer susceptibility may be the most psychologically vulnerable.
Among relatives of ovarian cancer patients, those who were most
interested in BRCA1 testing also were the most anxious and distressed
[2]. These findings contrast with studies of predictive testing
for Huntington's disease, in which persons who came forward for
testing were the most well-adjusted [21]. In other words, self-selection
for Huntington's disease testing produced a very high-functioning
sample of participants.

This discrepancy may reflect fundamental differences in the natural
history of Huntington's disease and cancer. Unlike Huntington's
disease, cancer is potentially preventable and can be treated
effectively if detected early. Empirical data from actual pilot
testing programs is necessary to elucidate more fully the characteristics
of high-risk individuals who present for genetic testing for cancer
risk. Nevertheless, the data reported to date indicate clearly
that clinicians who offer genetic testing should incorporate psychological
screening and services into their programs.

Patient and Provider Issues Relating
to the Genetic Counseling Process

Before implementing a genetic testing program, a clinician must
consider the time and resources necessary to provide a minimal
standard of care. In the case of counseling, the amount of time
can be substantial. In a BRCA1 testing program at the University
of Utah, for example, initial visits with the genetic counselor
typically last 2 hours or more. One reason is that laypeople have
little or no prior knowledge of genetics. In addition, there are
a number of relatively unique aspects of inherited cancer that
must be explained (eg, incomplete penetrance, etiologic heterogeneity).
Finally, it is important that clinicians encourage patients' questions
and provide adequate opportunities for them to express their concerns.

Given the complexity of genetic information, the communication
process must be carefully considered. Several studies of patient-provider
communication have shown that patients immediately forget or misunderstand
much of what they are told [22]. Physicians tend to overestimate
their patients' knowledge and adherence to recommended health
practices [23,24]. In addition, they underestimate both the amount
of time they spend informing patients and the desire of patients
for more information [25]. Deficiencies in patient-provider communication
may increase the likelihood of psychological adjustment problems
in patients at risk for cancer [26].

Certified genetic counselors can play a unique, critical role
in providing effective patient education. Because their training
and experience focus precisely on the task at hand, they are often
in a better position to explain inheritance and the meaning of
test results than are physicians.

A common practice among genetic counselors that may be unfamiliar
to oncologists is the use of detailed follow-up letters that reiterate
information communicated during a counseling session. We endorse
this strategy strongly, especially since effective patient education
materials for cancer genetic testing have yet to be developed.
When a team approach is used, oncologists' time may be best spent
on specific discussions of the medical options that may be faced
by mutation carriers. The genetic counselor or nurse oncologist
can then serve as an ongoing liaison between the physician and
patient as additional questions arise.